{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA16620700", "communityStandardTitle": [ "NM_005359.6(SMAD4):c.332A>C (p.His111Pro)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=410380[alleleid]", "alleleId": 410380, "preferredName": "NM_005359.6(SMAD4):c.332A>C (p.His111Pro)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/420231", "RCV": [ "RCV000482083", "RCV000635412", "RCV000776540", "RCV002446926" ], "variationId": 420231 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr18:g.48575138A>C?assembly=hg19", "id": "chr18:g.48575138A>C" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr18:g.51048768A>C?assembly=hg38", "id": "chr18:g.51048768A>C" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1064794363", "rs": 1064794363 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/18-48575138-A-C?dataset=gnomad_r2_1", "id": "18-48575138-A-C", "variant": "18:48575138 A / C" } ] }, "genomicAlleles": [ { "chromosome": "18", "coordinates": [ { "allele": "C", "end": 51048768, "referenceAllele": "A", "start": 51048767 } ], "hgvs": [ "NC_000018.10:g.51048768A>C", "CM000680.2:g.51048768A>C" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000066" }, { "chromosome": "18", "coordinates": [ { "allele": "C", "end": 48575138, "referenceAllele": "A", "start": 48575137 } ], "hgvs": [ "NC_000018.9:g.48575138A>C", "CM000680.1:g.48575138A>C" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000042" }, { "chromosome": "18", "coordinates": [ { "allele": "C", "end": 46829136, "referenceAllele": "A", "start": 46829135 } ], "hgvs": [ "NC_000018.8:g.46829136A>C" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000018" }, { "coordinates": [ { "allele": "C", "end": 85729, "referenceAllele": "A", "start": 85728 } ], "hgvs": [ "NG_013013.2:g.85729A>C", "LRG_318:g.85729A>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS002660" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "C", "end": 597, "referenceAllele": "A", "start": 596 } ], "gene": "http://reg.genome.network/gene/GN006770", "geneNCBI_id": 4089, "geneSymbol": "SMAD4", "hgvs": [ "ENST00000588860.6:c.332A>C" ], "proteinEffect": { "hgvs": "ENSP00000465878.2:p.His111Pro", "hgvsWellDefined": "ENSP00000465878.2:p.His111Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS914337" }, { "coordinates": [ { "allele": "C", "end": 636, "referenceAllele": "A", "start": 635 } ], "gene": "http://reg.genome.network/gene/GN006770", "geneNCBI_id": 4089, "geneSymbol": "SMAD4", "hgvs": [ "ENST00000589076.6:c.332A>C" ], "proteinEffect": { "hgvs": "ENSP00000466934.2:p.His111Pro", "hgvsWellDefined": "ENSP00000466934.2:p.His111Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS914338" }, { "coordinates": [ { "allele": "C", "end": 1039, "referenceAllele": "A", "start": 1038 } ], "gene": "http://reg.genome.network/gene/GN006770", "geneNCBI_id": 4089, "geneSymbol": "SMAD4", "hgvs": [ "ENST00000589941.2:c.332A>C" ], "proteinEffect": { "hgvs": "ENSP00000465874.2:p.His111Pro", "hgvsWellDefined": "ENSP00000465874.2:p.His111Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS914340" }, { "coordinates": [ { "allele": "C", "end": 455, "referenceAllele": "A", "start": 454 } ], "gene": "http://reg.genome.network/gene/GN006770", "geneNCBI_id": 4089, "geneSymbol": "SMAD4", "hgvs": [ "ENST00000590061.2:c.332A>C" ], "proteinEffect": { "hgvs": "ENSP00000464772.2:p.His111Pro", "hgvsWellDefined": "ENSP00000464772.2:p.His111Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS914342" }, { "coordinates": [ { "allele": "C", "end": 864, "referenceAllele": "A", "start": 863 } ], "gene": "http://reg.genome.network/gene/GN006770", "geneNCBI_id": 4089, "geneSymbol": "SMAD4", "hgvs": [ "ENST00000593223.2:c.332A>C" ], "proteinEffect": { "hgvs": "ENSP00000466118.2:p.His111Pro", "hgvsWellDefined": "ENSP00000466118.2:p.His111Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS914349" }, { "coordinates": [ { "allele": "C", "end": 459, "referenceAllele": "A", "start": 458 } ], "gene": "http://reg.genome.network/gene/GN006770", "geneNCBI_id": 4089, "geneSymbol": "SMAD4", "hgvs": [ "ENST00000611848.2:c.332A>C" ], "proteinEffect": { "hgvs": "ENSP00000478613.2:p.His111Pro", "hgvsWellDefined": "ENSP00000478613.2:p.His111Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS826412" }, { "coordinates": [ { "allele": "C", "end": 870, "referenceAllele": "A", "start": 869 } ], "gene": "http://reg.genome.network/gene/GN006770", "geneNCBI_id": 4089, "geneSymbol": "SMAD4", "hgvs": [ "ENST00000342988.8:c.332A>C" ], "proteinEffect": { "hgvs": "ENSP00000341551.3:p.His111Pro", "hgvsWellDefined": "ENSP00000341551.3:p.His111Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS748110", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000342988.8:c.332A>C" }, "RefSeq": { "hgvs": "NM_005359.6:c.332A>C" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000341551.3:p.His111Pro" }, "RefSeq": { "hgvs": "NP_005350.1:p.His111Pro" } } } }, { "coordinates": [ { "allele": "C", "end": 870, "referenceAllele": "A", "start": 869 } ], "gene": "http://reg.genome.network/gene/GN006770", "geneNCBI_id": 4089, "geneSymbol": "SMAD4", "hgvs": [ "ENST00000342988.7:c.332A>C" ], "proteinEffect": { "hgvs": "ENSP00000341551.3:p.His111Pro", "hgvsWellDefined": "ENSP00000341551.3:p.His111Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS261669" }, { "coordinates": [ { "allele": "C", "end": 590, "referenceAllele": "A", "start": 589 } ], "gene": "http://reg.genome.network/gene/GN006770", "geneNCBI_id": 4089, "geneSymbol": "SMAD4", "hgvs": [ "ENST00000398417.6:c.332A>C" ], "proteinEffect": { "hgvs": "ENSP00000381452.1:p.His111Pro", "hgvsWellDefined": "ENSP00000381452.1:p.His111Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS278258" }, { "coordinates": [ { "allele": "C", "end": 332, "referenceAllele": "A", "start": 331 } ], "gene": "http://reg.genome.network/gene/GN006770", "geneNCBI_id": 4089, "geneSymbol": "SMAD4", "hgvs": [ "ENST00000588745.5:c.332A>C" ], "proteinEffect": { "hgvs": "ENSP00000464901.1:p.His111Pro", "hgvsWellDefined": "ENSP00000464901.1:p.His111Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS390999" }, { "coordinates": [ { "allele": "C", "end": 731, "referenceAllele": "A", "start": 730 } ], "gene": "http://reg.genome.network/gene/GN006770", "geneNCBI_id": 4089, "geneSymbol": "SMAD4", "hgvs": [ "ENST00000588860.5:c.332A>C" ], "proteinEffect": { "hgvs": "ENSP00000465878.1:p.His111Pro", "hgvsWellDefined": "ENSP00000465878.1:p.His111Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS391074" }, { "coordinates": [ { "allele": "C", "end": 200, "referenceAllele": "A", "start": 199 } ], "gene": "http://reg.genome.network/gene/GN006770", "geneNCBI_id": 4089, "geneSymbol": "SMAD4", "hgvs": [ "ENST00000589706.1:n.200A>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS391683" }, { "coordinates": [ { "allele": "C", "end": 552, "referenceAllele": "A", "start": 551 } ], "gene": "http://reg.genome.network/gene/GN006770", "geneNCBI_id": 4089, "geneSymbol": "SMAD4", "hgvs": [ "ENST00000589941.1:c.332A>C" ], "proteinEffect": { "hgvs": "ENSP00000465874.1:p.His111Pro", "hgvsWellDefined": "ENSP00000465874.1:p.His111Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS391845" }, { "coordinates": [ { "allele": "C", "end": 455, "referenceAllele": "A", "start": 454 } ], "gene": "http://reg.genome.network/gene/GN006770", "geneNCBI_id": 4089, "geneSymbol": "SMAD4", "hgvs": [ "ENST00000590061.1:c.332A>C" ], "proteinEffect": { "hgvs": "ENSP00000464772.1:p.His111Pro", "hgvsWellDefined": "ENSP00000464772.1:p.His111Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS391920" }, { "coordinates": [ { "allele": "C", "end": 720, "referenceAllele": "A", "start": 719 } ], "hgvs": [ "ENST00000590722.2:c.*355A>C" ], "proteinEffect": { "hgvs": "ENSP00000465737.1:n.*355A>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS392392" }, { "coordinates": [ { "allele": "C", "end": 870, "referenceAllele": "A", "start": 869 } ], "gene": "http://reg.genome.network/gene/GN006770", "geneNCBI_id": 4089, "geneSymbol": "SMAD4", "hgvs": [ "ENST00000591914.5:c.332A>C" ], "proteinEffect": { "hgvs": "ENSP00000466941.1:p.His111Pro", "hgvsWellDefined": "ENSP00000466941.1:p.His111Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS393214" }, { "coordinates": [ { "allele": "C", "end": 332, "referenceAllele": "A", "start": 331 } ], "gene": "http://reg.genome.network/gene/GN006770", "geneNCBI_id": 4089, "geneSymbol": "SMAD4", "hgvs": [ "ENST00000592186.5:c.332A>C" ], "proteinEffect": { "hgvs": "ENSP00000468611.1:p.His111Pro", "hgvsWellDefined": "ENSP00000468611.1:p.His111Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS393389" }, { "coordinates": [ { "allele": "C", "end": 110, "referenceAllele": "A", "start": 109 } ], "gene": "http://reg.genome.network/gene/GN006770", "geneNCBI_id": 4089, "geneSymbol": "SMAD4", "hgvs": [ "ENST00000592911.5:n.110A>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS393890" }, { "@id": "http://reg.genome.network/allele/PA645474724", "coordinates": [ { "allele": "C", "end": 870, "referenceAllele": "A", "start": 869 } ], "gene": "http://reg.genome.network/gene/GN006770", "geneNCBI_id": 4089, "geneSymbol": "SMAD4", "hgvs": [ "NM_005359.5:c.332A>C", "LRG_318t1:c.332A>C" ], "proteinEffect": { "hgvs": "NP_005350.1:p.His111Pro", "hgvsWellDefined": "NP_005350.1:p.His111Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS030461" }, { "@id": "http://reg.genome.network/allele/PA645474724", "coordinates": [ { "allele": "C", "end": 870, "referenceAllele": "A", "start": 869 } ], "gene": "http://reg.genome.network/gene/GN006770", "geneNCBI_id": 4089, "geneSymbol": "SMAD4", "hgvs": [ "NM_005359.6:c.332A>C" ], "proteinEffect": { "hgvs": "NP_005350.1:p.His111Pro", "hgvsWellDefined": "NP_005350.1:p.His111Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS696402", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000342988.8:c.332A>C" }, "RefSeq": { "hgvs": "NM_005359.6:c.332A>C" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000341551.3:p.His111Pro" }, "RefSeq": { "hgvs": "NP_005350.1:p.His111Pro" } } } } ], "type": "nucleotide" }